小耳畸形是一种外耳和中耳发育异常的先天性畸形,其发生原因包括环境因素和遗传因素。小耳畸形的遗传学因素是病因研究的核心。目前在综合征型小耳畸形遗传病因方面已经取得了一定研究成果。近年来随着研究技术如高通量测序技术的进步,非综合征型小耳畸形的胚胎学和病因学研究也获得了很大进展。 Small ear deformity is a congenital deformity of the outer ear and middle ear dysplasia, its causes include environmental factors and genetic factors. Genetics of small ear malformations is at the heart of etiology. At present, some studies have been made on the genetic etiology of small ear syndrome. In recent years, with advances in research techniques such as high-throughput sequencing, considerable progress has been made in embryology and etiology of non-syndromic small ear malformations.